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A unique BRCA1 mutation identified in Mongolia
Journal article

A unique BRCA1 mutation identified in Mongolia

Abstract

This is a case report of genetic assessment conducted on a family residing in the third world where two sisters have presented with early onset ovarian cancer. Protein truncation testing and DNA sequencing identified a unique mutation on exon 11 (3452delA) of the BRCA1 gene. Buccal swab testing of three siblings and three offspring showed that half of the family members carried the same mutation. Currently, genetic testing in third-world …

Authors

Elit L; Jack E; Kwan E; Baigal G; Narod S

Journal

International Journal of Gynecological Cancer, Vol. 11, No. 3, pp. 241–243

Publisher

Elsevier

Publication Date

May 8, 2001

DOI

10.1046/j.1525-1438.2001.01020.x

ISSN

1048-891X